ArticleJournal of cancer research and clinical oncology2021
Molecular profiling of appendiceal serrated lesions, polyps and mucinous neoplasms: a single-centre experience.
Article in Journal of cancer research and clinical oncology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers, 3 of them syntheses that pooled it.
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Who cites it
16 citing papers in PubMed, 3 syntheses or guidelines pooled it, 23 citations in OpenAlex.
- Sessile serrated lesions of the appendix: a contemporary review of the literature.BMC gastroenterology · 2026Pooled it
- Molecular and immunohistochemical markers in appendiceal mucinous neoplasms: A systematic review and comparative analysis with ovarian mucinous neoplasms and colorectal adenocarcinoma.Histology and histopathology · 2025Pooled it
- The genetic profile and molecular subtypes of human pseudomyxoma peritonei and appendiceal mucinous neoplasms: a systematic review.Cancer metastasis reviews · 2023Pooled it
- Incidental serrated lesions of the appendix: analysis of 2,137 appendectomy specimens.Journal of pathology and translational medicine · 2026Article
- Clinicopathologic and Molecular Characteristics of High-Grade Appendiceal Mucinous Neoplasms.Annals of surgical oncology · 2026Article
- The Power of MUC2 in Mucinous Adenocarcinomas.Pathobiology : journal of immunopathology, molecular and cellular biology · 2026Review
- The Genomic Topography of Appendiceal Cancers: Our Current Understanding, Clinical Perspectives, and Future Directions.Cancers · 2025Review
- Article
- Defining a 'cells to society' research framework for appendiceal tumours.Nature reviews. Cancer · 2025Review
- How to differentiate primary mucinous ovarian tumors from ovarian metastases originating from primary appendiceal mucinous neoplasms: a review.Pathology oncology research : POR · 2025Review
- Article
- The Vermiform Appendix and Its Pathologies.Cancers · 2023Review
- Landscape of Genetic Mutations in Appendiceal Cancers.Cancers · 2023Review
- Case Report: An Unusual Case of Pulmonary Metastatic Adenocarcinoma From Low-Grade Appendiceal Mucinous Neoplasms.Frontiers in oncology · 2022Article
- Significance of the Entire Appendiceal Evaluation in the Diagnosis of Serrated Lesions, Low-Grade Appendiceal Mucinous Neoplasm, and Appendiceal Diverticulosis Disease.Frontiers in oncology · 2021Article
- Incidentally discovered, intentionally managed: a narrative review of the last decade's updates on the management of neuroendocrine tumor of the appendix.Annals of gastroenterologyReview
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Authors and funding
17 authors at 3 institutions in 1 country.
Funding
Abstract
purposeNon-neuroendocrine neoplasms of the appendix are a phenotypically heterogeneous group of lesions; a comprehensive molecular characterization of these tumors is still lacking.
methodsA total of 52 samples taken from 49 patients was evaluated: 18 sessile serrated lesions (SSL; 3 with dysplasia), 2 high-grade tubular adenomas, 1 tubulo-villous adenoma,1 hyperplastic polyp, 18 low-grade appendiceal mucinous neoplasms (LAMN), 3 high-grade appendiceal mucinous neoplasms (HAMN) and 9 mucinous adenocarcinomas. Hotspot mutational profiling of the RNF43, SMAD4, KRAS, NRAS, BRAF and PIK3CA genes was performed. Expression of p53, MLH1, PMS2, MSH2, and MSH6 was evaluated by immunohistochemistry.
resultsKRAS was the most frequently mutated gene (53.9% of cases), followed by RNF43 (15.4%), and BRAF (13.5%). In particular: KRAS was mutated in 44.4% of adenocarcinomas, 66.7% of HAMNs, 61.1% of LAMNs, 53.3% of SSL without dysplasia and in 66.7% of SSL with dysplasia; RNF43 was mutated in 33.3% of adenocarcinomas, 66.7% of HAMNs, 11.1% of LAMNs and in 6.7% of SSL without dysplasia; BRAF was mutated in 11.1% of adenocarcinomas, 26.7% of SSL without dysplasia and in 5.6% of LAMNs. Only a case of high-grade tubular adenoma showed mismatch repair deficiency, while immunohistochemical expression of p53 was altered in 21.1% of cases.
conclusionsThe histological phenotypic similarities between appendicular mucinous lesions and serrated colon lesions do not reflect a similar genetic landscape. Mismatch repair deficiency is a rare event during appendiceal mucinous carcinogenesis.
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